Results 101 to 110 of about 389,091 (306)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [PDF]

, 2007
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
C. Sandi, D. Trabzuni, D. Varshney, M. Pook, O. Ismail, R. M. Pinto, S. Al-Mahdawi, S. Lymperi   +7 more
core   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 more
wiley   +1 more source

RNA Methylation and Metabolism [PDF]

Science, 2013
Molecular Biology The methylation—and demethylation—of DNA play an important role in the dynamic regulation of gene expression and in genome stability. RNA in eukaryotes is also methylated on the A base (m6A), the most abundant posttranscriptional modification of mammalian mRNA.
openaire   +1 more source

Exaggerated CpH methylation in the autism-affected brain. [PDF]

, 2017
BackgroundThe etiology of autism, a complex, heritable, neurodevelopmental disorder, remains largely unexplained. Given the unexplained risk and recent evidence supporting a role for epigenetic mechanisms in the development of autism, we explored the ...
Arking, Dan E, Ellis, Shannon E, Gupta, Simone, Moes, Anna, West, Andrew B   +4 more
core   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Defending the genome from the enemy within:mechanisms of retrotransposon suppression in the mouse germline [PDF]

, 2013
The viability of any species requires that the genome is kept stable as it is transmitted from generation to generation by the germ cells. One of the challenges to transgenerational genome stability is the potential mutagenic activity of transposable ...
A Aravin, A Dupressoir, A Dupressoir, A Dupressoir, A Fadloun, A Inagaki, A Inoue, A Inoue, A Meissner, A Prokhortchouk, A Puech, A Sookdeo, A Tsumura, A Vourekas, AA Aravin, AA Aravin, AA Aravin, AA Zabolotneva, AE Peaston, AR Muotri, AR Muotri, B Hendrich, BH Schrans-Stassen, C Chen, C Lu, C Popp, C-X Song, C-X Song, CE Nestor, CG Lian, CM Davis, CP Walsh, D Bourc’his, D Bourc’his, D Branciforte, D Guallar, D Haig, D Lucifero, D Lucifero, D Reiss, D Ribet, D Ribet, D Ribet, D Sproul, D Wolf, D Wolf, DA Kramerov, DC Hancks, DJ Lees-Murdock, DM Maatouk, Donncha S. Dunican, DS Dunican, DT Ting, E Beyret, E Beyret, E Khazina, E Li, EB Chuong, EL Kuff, ES Lander, F Santos, F Yang, FD Araujo, G Hutvagner, G Velasco, GD Evrony, H Cedar, H Cedar, H Heyn, H Kano, H Khan, H Kobayashi, H Stroud, HJ Cooke, HM Rowe, HM Rowe, HM Rowe, I Cantone, I Martín Caballero, I Suetake, IA Maksakova, Ian R. Adams, J Borgel, J Brennecke, J Chen, J Gimenez, J Lange, J Reichmann, J Reichmann, J Rossant, J Sharif, J Xiol, J-H Ng, JA Hackett, JA Hackett, JA Yoder, James H. Crichton, JD Lewis, JK Baillie, JL Garcia-Perez, JL Goodier, JN Athanikar, JO Kriegs, JP Reddington, JP Reddington, JP Thomson, JP Thomson, JV Moran, K Dennis, K Hata, K Hayashi, K Hisada, K Kurimoto, K Myant, K Zheng, K Zheng, KP Koh, L Jackson-Grusby, L Ma, L Piko, L Shen, L-Q Sun, LK Hutnick, M Abe, M Chotalia, M Denne, M Dewannieux, M Dewannieux, M Dewannieux, M Freitag, M Kaneda, M Kaneda, M Ko, M Ko, M Leeb, M Okano, M Reuter, M Reuter, M Ruggiu, M Saitou, M Shoji, M Tachibana, M Tahiliani, M Weber, M Wiench, M Xu, MA Carmell, Marie MacLennan, MC Ward, MM Dawlaty, MM Dawlaty, MM Karimi, MT Romanish, N Bannert, N Gilbert, N Lane, N Mathioudakis, N Reynolds, N Yang, N Zamudio, OH Tam, P Hajkova, P Hajkova, PJ Skene, Q Feng, Q Yan, R Brunmeir, R Burdick, R Fuente De La, R Illingworth, R Lister, R Rebollo, R Shukla, R Yaman, R Öllinger, RH Waterston, Richard R. Meehan, RJ DeBerardinis, RJA Frost, RR Meehan, S Chuma, S Fazio De, S Guibert, S Ito, S Ito, S Kagiwada, S Kaufmann, S Kuntz, S Kuramochi-Miyagawa, S Kuramochi-Miyagawa, S Kuramochi-Miyagawa, S Kuramochi-Miyagawa, S Mi, S Milutinovic, S Salle La, S Schütt, S Seisenberger, S Solyom, S Takebayashi, S Yamaguchi, S-H Lee, SA Smallwood, SA Trelogan, SB Rothbart, SFC Soper, SK Mahadevaiah, SL Martin, SL Martin, SL Martin, SL Mathias, SP Sripathy, SS Tanaka, ST Grivna, T Matsui, T Singer, T Tanaka, T Watanabe, T Watanabe, T Watanabe, T-P Gu, TS Macfarlan, UM Galli, V Chapman, VV Vagin, W Deng, W Filipowicz, W Seifarth, W Wei, W Yan, WA Pastor, X Cai, X Nan, Y Kato, Y Seki, Y Tao, Y Unhavaithaya, Y Yabuta, Y Yotsuyanagi, Y-Q Su, Z Li, ZD Smith, ZD Smith   +241 more
core   +2 more sources

Microenvironmental Reprogramming by 3D Anisotropic Cardiac Extracellular Matrix Induces Nuclear Remodeling and Epigenetic Maturation of Chemically Induced Cardiomyocytes

Advanced Functional Materials, EarlyView.
A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo, Mi Jeong Lee, Hyun Wook Kang, Seonhee Byeon, Soo‐Kyoung Choi, Nakwon Choi, Seung‐Woo Cho, Yoonhee Jin   +7 more
wiley   +1 more source

Trends and frontiers of RNA methylation in cancer over the past 10 years: a bibliometric and visual analysis

Frontiers in Genetics
PurposeTo highlight the trends and frontiers of RNA methylation in cancer over the past 10 years.MethodsResearch publications on RNA methylation in cancer were retrieved from the Web of Science Core Collection database.
Bo-Na Liu, Xiao-Li Gao, Ying Piao
doaj   +1 more source

Functional Crosstalk between Lysine Methyltransferases on Histone Substrates: The Case of G9A/GLP and Polycomb Repressive Complex 2 [PDF]

, 2015
Significance: Methylation of histone H3 on lysine 9 and 27 (H3K9 and H3K27) are two epigenetic modifications that have been linked to several crucial biological processes, among which are transcriptional silencing and cell differentiation.
Ait Si Ali, Slimane, Mozzetta, Chiara, Pontis, Julien   +2 more
core   +2 more sources